NORD - National Organization For Rare Disorders, Inc. dubowitz syndrome articles, support groups, and resourcesdubowitz syndrome articles, support groups, and resources for patients from MedHelp International (www.medhelp.org) http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Dubowitz Synd
Extractions: Detail Sourcebook Listing Title: Description: Provides support, understanding and information to families affected by Dubowitz syndrome, a rare genetic disorder defined by growth retardation, microcephaly, and a characteristic facial appearance. Literature, information and referrals, phone support, pen pal program. Scope: International network Founded: Telephone: Email: bobbiep@dubowitz.org Web Address: http://www.dubowitz.org This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to admin@selfhelpgroups.org
Entrez PubMed We review clinical information on 141 individuals with dubowitz syndrome, We define the dubowitz syndrome phenotype on the basis of clinical http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9
IMG-1370 Species human; Tissue skin, fibroblast; Pathology dubowitz syndrome. Available inthe following LABORATORY. Russian Academy of Medical Sciences (MWCMG, http://www.biotech.ist.unige.it/cldb/cl2720.html
Hill Health Topics A-Z - Dubowitz Syndrome NE dubowitz syndrome Support c/o Sharon Terzian 106 Verndale St. Warwick, RI02889 CALL 401737-3138 dubowitz syndrome Information and Parent Support http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=shc29dub&S
Hill Health Topics A-Z - Dubowitz Syndrome dubowitz syndrome. National Organization for Rare Disorders. Important It ispossible that the main title of the report dubowitz syndrome is not the name http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord198&SE
Dubowitz Syndrome - St. Joseph Mercy, Ann Arbor Michigan dubowitz syndrome St. Joseph Mercy Health System Hospitals serving Ann Arbor,SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/13443.cfm
Extractions: @import url(default.css); Online Health Information Back to Health Library Print This Page Email to a Friend NE Dubowitz Syndrome Support Dubowitz Syndrome Information and Parent Support This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Model. 1 group in Rhode Island. Founded 1997.
Kprones DUB10016 dubowitz syndrome review of 141 cases including 36 previously Huret JL andLéonard C . dubowitz syndrome. Atlas Genet Cytogenet Oncol Haematol. http://www.infobiogen.fr/services/chromcancer/Kprones/DUB10016.html
Extractions: Home Genes Leukemias Solid Tumours ... NA Identity Note Dubowitz syndrome may be confused with Bloom syndrome ; another differential diagnosis is fetal alcohol syndrome Inheritance autosomal recessive; heterogeneity cannot be excluded; less than 150 cases described Clinics Note phenotypic spectrum variable Phenotype and clinics growth: from normal to severe retardation; intrauterine growth retardation is frequent; birth weight: 2.3 kg; length: 45 cm; cranial perimeter: 30 cm; delayed bone age. head: microcephaly; high forehead; sparse hair; broad nose; epicanthus; hypertelorism; blepharophimosis; microretrognathia. skin: eczema, a classical sign, may be absent. congenital heart defects in 10%; other malformations: ocular, dental, skeletal, urogenital in male patients; frequent infections. mental retardation in 30-70 % of cases (from normal in 30% to severe retardation in 10%); siezures in 10%high-pitched voice; behaviour problems in 40%; most patients are 'hyperactive, shy, like music'. Neoplastic risk haematological malignancies and pancytopenia in 10%
Anomalies ChildMDS Bloom syndrome (MIM 21090) a chromosome instability syndrome dubowitz syndrome (MIM22337) mimicks Bloom s, but without chromosome instability http://www.infobiogen.fr/services/chromcancer/Anomalies/childMDS.html
Extractions: Text Size A A A Front Page ... Genetic Disorders : Dubowitz Syndrome Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF). full story Big Differences In Duplicated DNA Distinguish Chimp And Human Genomes (September 2, 2005)
Birth Disorder Information Directory - D dubowitz syndrome. Short description of cell lines. Pathology dubowitz syndrome dubowitz syndrome Information and Parent Support dubowitz syndrome http://www.bdid.com/defectd.htm
Extractions: HOME D Ercole Syndrome (Short Stature with Microcephaly and Heart Defect) D-Glycerate Kinase Deficiency (D-Glycericacidemia; Hyperglycinemia Syndrome, Nonketotic) D-Glycericacidemia Da Silva Syndrome (Mental Retardation with Hypoplastic Corpus Callosum and Preauricular Tag) Dacryocystitis/Dacryostenosis (Blocked Tear Duct) Dandy Walker Malformation/Syndrome Danon Disease (Glycogen Storage Disease, Type IIB) Dappled Metaphysis Syndrome Darier (White) Disease (Keratosis Follicularis) Davidson's Disease De Barsy Syndrome (Cutis Laxa with Corneal Clouding and Mental Retardation; Progeroid Syndrome, De Barsy Type) Cutis laxa corneal clouding mental retardation CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION
Dubowitz Syndrome, Eastern Carolina dubowitz syndrome University Health Systems of Eastern Carolina serves tarboro,ahoskie, edento, winsor, maxhead, dear county, outebanks counties in http://www.uhseast.com/117650.cfm
Extractions: Information about national and local self-help organizations and support groups. This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Model. 1 group in Rhode Island. Founded 1997.
Dubowitz Syndrome Synonyms, Eastern Carolina dubowitz syndrome Synonyms University Health Systems of Eastern Carolina servestarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties http://www.uhseast.com/112702.cfm
Extractions: It is possible that the main title of the report Dubowitz Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Dubowitz syndrome is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including but not limited to: (1) growth failure/short stature; (2) unusual but characteristic facial features; (3) a small head (microencephaly); (4) mild (usually) mental retardation; and (5), in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable in its expression. Symptoms may be detected while the fetus is still in the uterus (intrauterine) as well as immediately after birth (neonatal). Facial appearance is a key to the diagnosis, with characteristic high or sloping forehead; sparse hair; flat, undeveloped (hypoplastic) bones above the eyes (supraorbital ridges); increased distance between the eyes (ocular hypertelorism); drooping eyelids (ptosis); sparse (hypoplastic) lateral eyebrows; very small lower jaw (micrognathia) and receding chin (retrognathia). Affected children are often hyperactive, stubborn and shy.
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: December 12, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: SRS, Russell-Silver syndrome, Silver-Russell dwarfism, Silver syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Ainu Prakash-Cheng, MD, PhD , Co-Director, Comprehensive Gaucher Disease Treatment Center, Department of Human Genetics, Mount Sinai School of Medicine Coauthor(s): Margaret McGovern, MD, PhD , Vice Chair, Associate Professor, Department of Human Genetics, Mount Sinai School of Medicine Ainu Prakash-Cheng, MD, PhD, is a member of the following medical societies: American Academy of Pediatrics American Society of Gene Therapy , and American Society of Human Genetics Editor(s): Elaine H Zackai, MD
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Last Updated: May 7, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: Nijmegen breakage syndrome; NBS; Berlin breakage syndrome; BBS; Seemanová syndrome II; ataxia-telangiectasia variants; AT-V1; AT-V2; microcephaly, immunodeficiency, and chromosomal instability; microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies; MIM 251260; OMIM 251260; MIM 602667; OMIM 602667 AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography
Welcome To Bridges4kids.org! Disability Information dubowitz syndrome. General Information dubowitz syndromeis a very rare genetic and developmental disorder involving multiple http://www.bridges4kids.org/Disabilities/Dubowitz.html
Extractions: Early On Lead Poisoning Positive Behavior Support No Child Left Behind ... LDA of Michigan Where to find help for a child in Michigan Anywhere in the U.S. , or Canada What's New? Help Text Menu ... Translate Last Updated: Disability Information - Dubowitz Syndrome General Information Articles Related to this Disability Medical Information back to the top ... report a bad link General Information Dubowitz syndrome is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including but not limited to: (1) growth failure/short stature; (2) unusual but characteristic facial features; (3) a small head (microencephaly); (4) mild (usually) mental retardation; and (5), in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable in its expression. Symptoms may be detected while the fetus is still in the uterus (intrauterine) as well as immediately after birth (neonatal). Facial appearance is a key to the diagnosis, with characteristic high or sloping forehead; sparse hair; flat, undeveloped (hypoplastic) bones above the eyes (supraorbital ridges); increased distance between the eyes (ocular hypertelorism); drooping eyelids (ptosis); sparse (hypoplastic) lateral eyebrows; very small lower jaw (micrognathia) and receding chin (retrognathia). Affected children are often hyperactive, stubborn and shy.
